Molecular Autopsy

In a nation of 323 million, sudden death of 11,000 people a year is a relatively small toll. According to this piece, though, post mortem genetic testing for pulmonary embolism, ruptured aortic aneurysm, sudden cardiac death, and sudden infant death is far lower today than it was in 1966. The need for molecular autopsy, of course, is to inform living relatives of the deceased as to what degree of risk they face for premature death. In a Scripps Institute study of 25 sudden death cases, 4 (16%) showed a likely genetic cause; 6 (24%) a plausible genetic cause; 7 (28%) a speculative cause; and 8 (32%) no genetic cause—all based on whole exome sequencing. 70% of the likely and plausible mutations were inherited from family members who did not die suddenly. MORE